Variant report

Variant	rs12428035
Chromosome Location	chr13:96300872-96300873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11618323	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12429254	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16951334	1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17879875	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2274292	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087341	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3886352	0.81[CHD][hapmap]
rs41277668	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316996	0.91[CHD][hapmap]
rs7318892	0.91[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900934	chr13:96255706-96327574	Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to statins (LDL cholesterol change)	25350695	GWAS catalog

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12428035	UGCGL2	cis	multi-tissue	Pritchard
rs12428035	UGGT2	cis	cerebellum	SCAN
rs12428035	DZIP1	cis	parietal	SCAN
rs12428035	DZIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96297800-96301200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:96297800-96301200	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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